Variant report

Variant	rs73048544
Chromosome Location	chr1:172442038-172442039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172441688..172443816-chr1:172500587..172502900,2	K562	blood:
2	chr1:172440495..172444630-chr1:172497465..172500697,4	MCF-7	breast:
3	chr1:172435653..172437888-chr1:172440470..172444240,3	MCF-7	breast:
4	chr1:172439490..172443248-chr1:172495023..172498932,4	MCF-7	breast:
5	chr1:172435764..172437831-chr1:172441142..172443070,2	K562	blood:
6	chr1:172441394..172443061-chr1:172501494..172503816,2	MCF-7	breast:
7	chr1:172440631..172443212-chr1:172501569..172503673,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

rs_ID	r²[population]
rs10797978	1.00[ASN][1000 genomes]
rs10797984	1.00[ASN][1000 genomes]
rs10798029	1.00[ASN][1000 genomes]
rs10911603	1.00[ASN][1000 genomes]
rs10911624	1.00[ASN][1000 genomes]
rs10911627	1.00[ASN][1000 genomes]
rs10911629	1.00[ASN][1000 genomes]
rs12081260	1.00[ASN][1000 genomes]
rs12117159	1.00[ASN][1000 genomes]
rs12120829	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124608	1.00[ASN][1000 genomes]
rs12130929	1.00[ASN][1000 genomes]
rs12132562	1.00[ASN][1000 genomes]
rs12132925	1.00[ASN][1000 genomes]
rs12133952	1.00[ASN][1000 genomes]
rs12134640	1.00[ASN][1000 genomes]
rs12134818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134821	1.00[ASN][1000 genomes]
rs12137951	1.00[ASN][1000 genomes]
rs12140433	1.00[ASN][1000 genomes]
rs12141605	1.00[ASN][1000 genomes]
rs12143377	1.00[ASN][1000 genomes]
rs12143497	1.00[ASN][1000 genomes]
rs12143622	1.00[ASN][1000 genomes]
rs16844588	1.00[ASN][1000 genomes]
rs17368984	1.00[ASN][1000 genomes]
rs59476820	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61330781	1.00[ASN][1000 genomes]
rs9425562	1.00[ASN][1000 genomes]
rs990363	1.00[ASN][1000 genomes]

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172436800-172444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:172437000-172444400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172437800-172445400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:172438200-172449200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:172439000-172444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:172439200-172442600	Weak transcription	Placenta	Placenta
7	chr1:172439600-172442800	Weak transcription	Stomach Mucosa	stomach
8	chr1:172439800-172442600	Weak transcription	Pancreas	Pancrea
9	chr1:172439800-172443400	Enhancers	HepG2	liver
10	chr1:172440000-172445400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:172440200-172445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:172440400-172442600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:172440800-172444200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:172441000-172442200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:172441400-172442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:172441400-172443200	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:172441400-172443400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:172441400-172443400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:172441600-172443000	Enhancers	HMEC	breast
20	chr1:172441800-172442800	Weak transcription	NHEK	skin
21	chr1:172441800-172443000	Enhancers	K562	blood
22	chr1:172441800-172443400	Enhancers	Ovary	ovary
23	chr1:172442000-172443400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:172442000-172444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links